Biallelic Mutations in Are Associated with Prenatal Polycystic Kidney Disease in a Turkish Family

Overview

Journal Mol Syndromol

Date 2021 Jun 28

PMID 34177435

Citations 3

Authors

Esra Arslan Ates

Ayberk Turkyilmaz

Kenan Delil

Ceren Alavanda

Mehmet Ali Soylemez

Bilgen Bilge Geckinli

Pinar Ata

Ahmet Arman

Affiliations

Soon will be listed here.

Abstract

Polycystic kidney disease (PKD) is a life-threatening condition resulting in end-stage renal disease. Two major forms of PKD are defined according to the inheritance pattern. Autosomal dominant PKD (ADPKD) is characterized by renal cysts, where nearly half of the patients suffers from renal failure in the 7th decade of life. Autosomal recessive PKD (ARPKD) is a rarer and more severe form presenting in childhood. Whole-exome sequencing (WES) analyses was performed to investigate molecular causes of the disease in the fetus. In this study, we present 2 fetuses prenatally diagnosed with PKD in a consanguineous family. WES analysis of the second fetus revealed a homozygous variant (c.740+1G>A) in which is related to ADPKD. This study reveals that biallelic mutations may cause an antenatal severe form of ARPKD and contributes to understanding the -related ADPKD phenotype. The possibility of ARPKD due to biallelic mutations in ADPKD genes should be considered in genetic counseling.

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